Cutis Laxa, Autosomal Recessive

What is Cutis Laxa, Autosomal Recessive?

This rare disease is a genetic connective tissue disorder. It affects the connective tissue in the skin, heart, blood vessels, joints, intestines and lungs.

There are autosomal dominant and autosomal recessive forms of the syndrome. The forms of the syndrome inherited in a recessive pattern tend to present with more severe symptoms.

What gene changes cause Cutis Laxa, Autosomal Recessive?

Changes in the APP6V0A2, AP7A, EFEMP2, ELN, FBLN5, PYCR1 and LTBP4 genes are responsible for the syndrome.

This form of the syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Cutis Laxa, Autosomal Recessive?

The main symptoms of the syndrome affect the connective tissue- this leads to loose and wrinkled skin, and may also affect the connective tissue in the heart, blood vessels, joints, intestines and lungs. This may lead to serious symptoms that affect the critical arteries in the body. It can also cause diverticula (pouches) in the walls of the bladder, intestines and other organs.

The syndrome may also cause emphysema, a lung disease, in children.

The autosomal recessive form of the syndrome also causes intellectual disability, seizures and issues with movement.

How does someone get tested for Cutis Laxa, Autosomal Recessive?

The initial diagnosis of Cutis Laxa, Autosomal Recessive can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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